Lost in translation: cytoplasmic UBA1 and VEXAS syndrome
Author:
Affiliation:
1. Leukemia/BMT Program of BC, BC Cancer; and
2. University of British Columbia
Publisher
American Society of Hematology
Subject
Cell Biology,Hematology,Immunology,Biochemistry
Link
https://ashpublications.org/blood/article-pdf/140/13/1455/1922821/bloodbld2022017560c.pdf
Reference10 articles.
1. Translation of cytoplasmic UBA1 contributes to VEXAS syndrome pathogenesis;Ferrada;Blood.,2022
2. Somatic mutations in UBA1 and severe adult-onset autoinflammatory disease;Beck;N Engl J Med.,2020
3. Further characterization of clinical and laboratory features in VEXAS syndrome: large-scale analysis of a multicentre case series of 116 French patients;Georgin-Lavialle;Br J Dermatol.,2022
4. Novel somatic mutations in UBA1 as a cause of VEXAS syndrome;Poulter;Blood.,2021
5. Innovations in genomics for undiagnosed diseases: vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome;Stubbins;CMAJ.,2022
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1. Trismus as a new feature of VEXAS syndrome;Rheumatology;2024-03-06
2. Autoimmunity and Autoinflammation: Relapsing Polychondritis and VEXAS Syndrome Challenge;International Journal of Molecular Sciences;2024-02-13
3. VEXAS syndrome: on the threshold of changing perceptions of known diseases;Modern Rheumatology Journal;2023-12-20
4. VEXAS syndrome: Current clinical, diagnostic and treatment approaches;Intractable & Rare Diseases Research;2023-08-31
5. VEXAS Syndrome—Review;Global Medical Genetics;2023-07-10
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